In summary, 9H;C*, 9V;C*, 0S;C* and 4L;C* mice provide additional in vivo models to study the tissue specific pathogenic effect of GBA1 mutations, e.g. 9V;C* and 0S;C* for skin permeability, 4L;C* for neuronopathic phenotype27 and 9H;C* for chronic form of both viscera and brain pathology in Gaucher disease. This evidence concerns the gene GBA1 and Gaucher disease.